Canonical Allele Identifier: CA634454876
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1356915257
gnomAD v2: 20-10638805-T-C
gnomAD v3: 20-10658157-T-C
gnomAD v4: 20-10658157-T-C
MyVariant Identifiers: chr20:g.10638805T>C (hg19) chr20:g.10658157T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658157T>C , CM000682.2:g.10658157T>C GRCh38
NC_000020.10:g.10638805T>C , CM000682.1:g.10638805T>C GRCh37
NC_000020.9:g.10586805T>C NCBI36
NG_007496.1:g.20890A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+311A>G MANE Select ENSP00000254958.4:n.694+311A>G
ENST00000254958.9:c.694+311A>G ENSP00000254958.4:n.694+311A>G
ENST00000423891.6:n.560+311A>G
NM_000214.2:c.694+311A>G NP_000205.1:n.694+311A>G
NM_000214.3:c.694+311A>G MANE Select NP_000205.1:n.694+311A>G
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